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FRANCE

BRETAGNE
RENNES

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
CHU de Rennes - Hôpital Pontchaillou
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
CHU de Marseille - Hôpital de la Timone
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques, MLPA based techniques

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FRANCE

PAYS DE LA LOIRE
NANTES

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
CHU de Nantes - Institut de Biologie
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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FRANCE

OCCITANIE
MONTPELLIER

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy and familial dilated cardiomyopathy (DMD gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy by study of dystrophin based on muscular biopsy (Western-Blot)
AP-HP.Centre - Université de Paris - Hôpital Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Western Blot

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ITALY

TOSCANA
FIRENZE

Accreditation Molecular diagnosis of muscular dystrophy, Duchenne and Becker type (DMD gene)
Azienda Ospedaliero Universitaria Careggi
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Nordrhein-Westfalen
BOCHUM

Accreditation Diagnosis of muscular diseases (NGS screening panel: 103 genes)
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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GERMANY

Bayern
NEU-ULM

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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SWITZERLAND

Suisse Romande
GENÈVE

Accreditation Diagnosis of Duchenne and Becker Muscular dystrophies (DMD and BMD genes)
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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FINLAND

Finland
TURKU

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene ; deletion/ duplication analysis)
Turku University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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BELGIUM

LIEGE
LIEGE

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
CHU de Liège - UniLab Lg
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene, partial deletions/duplications)
Centrum Medische Genetica - UZA
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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SPAIN

Comunidad Valenciana
PATERNA

Accreditation Diagnosis of Duchenne muscular dystrophy (DMD gene)
Sistemas Genómicos S.L.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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AUSTRIA

STEIERMARK
GRAZ

Accreditation Diagnosis of muscular dystrophy, Duchenne and Becker type (DMD gene)
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Sachsen
DRESDEN

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ESTONIA

Tartu
TARTU

Accreditation Molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Genetics and Personalized Medicine Clinic - Tartu University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation Molecular diagnosis of Duchenne and Becker muscular dystrophy (Dystrophin gene: Molecular diagnosis through dosage analysis)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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GERMANY

Bayern
WÜRZBURG

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Universität Würzburg - Biozentrum
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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GERMANY

Baden-Württemberg
HEIDELBERG

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy
Institut für Humangenetik am Universitätsklinikum Heidelberg
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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BELGIUM

HAINAUT
GOSSELIES

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Institut de Pathologie et de Génétique
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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GERMANY

Thüringen
JENA

Accreditation Diagnosis of Xp deletions
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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SWITZERLAND

Suisse Alémanique
BERN

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy and DMD-related dilated cardiopathy (DMD gene)
Universitätsspital Inselspital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

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NETHERLANDS

Zuid-Holland
LEIDEN

Accreditation Diagnosis of Duchenne and Becker Muscular Dystrophy (DMD gene)
LUMC - Leids Universitair Medisch Centrum
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

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SPAIN

Murcia
EL PALMAR

Accreditation Diagnosis of muscular dystrophy Duchenne and Becker type (DMD gene)
Centro de Bioquímica y Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
UZ Leuven - Campus Gasthuisberg
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation Molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Newcastle upon Tyne Hospitals NHS Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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GERMANY

Nordrhein-Westfalen
MÜNSTER

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Institut für Humangenetik des Universitätsklinikums Münster
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
FREIBURG

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy
SYNLAB MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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SWEDEN

Region Stockholm
SOLNA

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Karolinska Universitetssjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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GERMANY

Hamburg
HAMBURG

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
UKE - Universitätsklinikum Hamburg-Eppendorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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GERMANY

Sachsen
LEIPZIG

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
MVZ Labor Dr. Reising-Ackermann und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SWEDEN

Region Västra Götaland
GÖTEBORG

Accreditation Molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD gene: MLPA analysis of all exons)
Sahlgrenska Universitetssjuhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene: sequencing / MLPA)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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GERMANY

Baden-Württemberg
MANNHEIM

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
MVZ Labor PD Dr. Volkmann und Kollegen GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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CANADA

Ontario
TORONTO

Accreditation Molecular Diagnosis of Duchenne and Becker Muscular Dystrophy (by DMD DNA sequencing, MLPA, mRNA analysis)
The Hospital for Sick Children and University of Toronto
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of myopathy /muscular dystrophy (NGS screening panel, 218 genes)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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AUSTRIA

OBERÖSTERREICH
LINZ

Accreditation Diagnosis of Duchenne muscular dystrophy (DMD gene)
Ordensklinikum Linz GmbH Barmherzige Schwestern
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene: sequencing / MLPA)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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NETHERLANDS

Utrecht
UTRECHT

Accreditation Molecular diagnosis of Cardiomyopathy (gene panel; CAR01v16.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Bayern
MARTINSRIED/PLANEGG

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
MVZ Martinsried GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation Diagnosis of Muscular dystrophy (NGS screening panel: 56 genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of Duchenne and Becker muscular distrophy (DMD gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

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GERMANY

Bayern
MÜNCHEN

Accreditation Heterozygote screening by NGS Inherited Disease Panel (Kingsmore panel)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Hamburg
HAMBURG

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Labor Dr. Fenner & Kollegen MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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AUSTRIA

TIROL
INNSBRUCK

Accreditation Molecular diagnosis of Duchenne and Becker Muscular Dystrophy (DMD gene)
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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GERMANY

Bayern
WÜRZBURG

Accreditation Diagnosis of myopathies (NGS screening panel, 65 genes)
Universität Würzburg - Biozentrum
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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FRANCE

GRAND-EST
STRASBOURG

Accreditation Diagnosis of myopathy (Panel)
CHU de Strasbourg - Hôpital Civil
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of cardiomyopathy (Panel)
AP-HP. Centre - Université de Paris - HEGP Hôpital Européen Georges Pompidou
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Universitätsklinikum Aachen
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques

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GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation Diagnosis of neurogenetic and neuromuscular diseases (NGS panel, 291 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation Diagnosis of limb-girdle muscular dystrophy (Panel : second intention)
CHU de Lyon HCL - GH Est
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

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NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation Molecular diagnosis of Limb-Girdle Muscular Dystrophy (gene panel)
Amsterdam UMC, locatie AMC
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
CHU de Lyon HCL - GH Est
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

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GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation Diagnosis of muscular dystrophy including limb girdle dystrophies (NGS screening panel, 43 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of rare heart diseases (NGS screening panel, 157 genes)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Molecular diagnosis of Vision Disorders (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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NETHERLANDS

Utrecht
UTRECHT

Accreditation Molecular diagnosis of Muscular Dystrophy (gene panel; NEM08v16.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Bayern
NEU-ULM

Accreditation Diagnosis of muscular diseases (NGS screening panel: 102 genes)
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of dystrophinopathy (Duchenne / Becker muscular dystrophy) and limb girdle muscular dystrophy (Panel)
AP-HP.Centre - Université de Paris - Hôpital Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

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FRANCE

OCCITANIE
MONTPELLIER

Accreditation Diagnosis of myopathy and muscular dystrophy (Wide Panel)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation Diagnosis of limb-girdle muscular dystrophy (Panel : first intention)
CHU de Lyon HCL - GH Est
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

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SPAIN

Asturias
OVIEDO

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Hospital Universitario Central de Asturias
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene, full sequencing)
Centrum Medische Genetica - UZA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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BELGIUM

HAINAUT
GOSSELIES

Accreditation Diagnosis of myopathies (gene panel)
Institut de Pathologie et de Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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BELGIUM

OOST-VLAANDEREN
GENT

Accreditation Diagnosis of neuromuscular disorders (gene panel)
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation Diagnosis of neuromuscular disorders (gene panel)
Cliniques Universitaires de Bruxelles - Hôpital Erasme
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SWITZERLAND

Suisse Romande
GENÈVE

Accreditation Diagnosis of muscular dystrophy (panel)
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation Diagnosis of neuromuscular disorders (gene panel)
UZ Leuven - Campus Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation Diagnosis of neuromuscular disorders (gene panel)
Universitair Ziekenhuis Brussel
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Accreditation Diagnosis of Duchenne muscular distrophy (DMD gene)
Laboratoire Cerba
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Accreditation Diagnosis of limb-girdle muscular dystrophy (Panel)
Laboratoire Cerba
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

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FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Accreditation Diagnosis of neuromuscular diseases (Panel)
Laboratoire Cerba
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

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FRANCE

AUVERGNE-RHONE-ALPES
LYON

Accreditation Diagnosis of Duchenne muscular dystrophy (DMD gene)
Eurofins Biomnis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES)

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FRANCE

AUVERGNE-RHONE-ALPES
LYON

Accreditation Diagnosis of neuromuscular diseases (Whole Exome)
Eurofins Biomnis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnostics of genetic neuromuscular disease (NGS screening panel: 373 genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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ITALY

SICILIA
CATANIA

Accreditation Molecular diagnosis of muscular dystrophy, Duchenne and Becker type (DMD gene)
LABOGEN S.a.S.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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NORWAY

Vestlandet
BERGEN

Accreditation Molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Haukeland University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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ITALY

TOSCANA
PISA

Diagnosis of muscular dystophy Duchenne and Becker type (DMD gene)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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ITALY

LOMBARDIA
MILANO

Molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Ospedale Maggiore Policlinico - Clinica Mangiagalli
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

CAMPANIA
NAPOLI

Diagnosis of muscular dystrophy Duchenne and Becker type (DMD gene)
CEINGE - Biotecnologie Avanzate Srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Cataluña
BARCELONA

Diagnosis of Duchenne and Becker muscular distrophy (DMD gene)
Hospital de la Santa Creu i Sant Pau
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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ITALY

LAZIO
ROMA

Molecular diagnosis of muscular dystrophy, Duchenne and Becker type (DMD gene)
Laboratorio Genoma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LOMBARDIA
MILANO

Molecular diagnosis of Muscular dystrophy, Duchenne and Becker type (DMD gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

EMILIA ROMAGNA
FERRARA

Diagnosis of muscular dystrophy, Duchenne and Becker type (DMD gene)
A.O.U. Sant'Anna - Polo Chimico-Bio-Medico
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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SPAIN

Andalucía
SEVILLA

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Hospital Universitario Virgen del Rocío
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
Technique(s) : PCR based techniques, MLPA based techniques

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ITALY

PIEMONTE
TORINO

Molecular diagnosis of muscular dystrophy, Duchenne and Becker type (DMD gene)
A.O.U. Città della Salute e della Scienza di Torino - Ospedale Molinette
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Niedersachsen
OSNABRÜCK

Diagnosis of Duchenne and Becker muscular dystrophy
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Madrid
MADRID

Diagnosis of Duchenne muscular dystrophy (DMD gene)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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SWEDEN

Region Uppsala
UPPSALA

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Akademiska Sjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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TURKEY

TURKEY
ISTANBUL

Prenatal and postnatal molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Acibadem healthcare group
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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SPAIN

Cataluña
BARCELONA

Diagnosis of Duchenne muscular dystrophy (DMD gene; SNP array)
DiNA Science
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics, Other
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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TURKEY

TURKEY
ISTANBUL

Molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD gene copy number by MLPA)
Genetiks - Genetic diagnosis and research center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

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SPAIN

Madrid
MADRID

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : MLPA based techniques

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GERMANY

Hamburg
HAMBURG

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Gemeinschaftspraxis für Humangenetik GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Hospital Universitario y Politécnico La Fe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Health in Code. Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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POLAND

Poznan
POZNAN

Molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD gene: MLPA analysis)
Centrum Genetyki Medycznej GENESIS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

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SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of Duchenne muscular dystrophy (DMD gene)
Sistemas Genómicos S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

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SPAIN

Cataluña
BARCELONA

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Hospital Clínic de Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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SPAIN

Aragón
ZARAGOZA

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Hospital Universitario Miguel Servet
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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GERMANY

Baden-Württemberg
ULM

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
MVZ Humangenetik Ulm GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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ITALY

LAZIO
ROMA

Molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene: sequencing / MLPA)
Praxis für Humangenetik und Prävention
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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GERMANY

Sachsen
DRESDEN

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene: sequencing / MLPA)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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ITALY

LOMBARDIA
CREMONA

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
ASST Cremona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : MLPA based techniques

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SPAIN

Madrid
MADRID

Diagnosis of Duchenne and Becker muscular dystrophies (DMD gene)
Hospital Clínico San Carlos
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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GERMANY

Berlin
BERLIN

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Labor Medicover Humangenetik Berlin Lichtenberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

La Rioja
LOGROÑO

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Fundación Rioja Salud - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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SPAIN

Cataluña
TERRASSA

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

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AUSTRIA

SALZBURG
SALZBURG

Molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Universitätsklinikum der Paracelsus Medizinischen Privatuniversität
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : MLPA based techniques

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GERMANY

Nordrhein-Westfalen
KÖLN

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

VENETO
LIMENA

Molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
RDI - RETE DIAGNOSTICA ITALIANA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
CENTOGENE GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

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GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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HUNGARY

Közép-Magyarország
DEBRECEN

Molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
University of Debrecen
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

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SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

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ITALY

FRIULI VENEZIA GIULIA
UDINE

Molecular diagnosis of muscular dystrophy of Duchenne and Becker (DMD gene)
Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : MLPA based techniques

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SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of congenital heart diseases (panel)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Comunidad Valenciana
ALICANTE

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Instituto Bernabeu Biotech
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : MLPA based techniques

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of Duchenne muscular dystrophy (DMD gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

VENETO
PADOVA

Molecular diagnosis of familial cardiomyopathy [panel of genes]
Research&Innovation S.r.l. (R&I Genetics)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

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ITALY

VENETO
PADOVA

Diagnosis of intellectual disability syndromes [panel of genes]
Research&Innovation S.r.l. (R&I Genetics)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

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SPAIN

Madrid
MADRID

Diagnosis of muscular dystrophy (panel)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of recessive diseases (panel, qCarrier Plus)
qGenomics
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
BADALONA

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Instituto de Investigación Germans Trias i Pujol
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Detection of microdeletions/microduplications
Technique(s) : NGS sequencing (except WES), MLPA based techniques

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

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SPAIN

La Rioja
LOGROÑO

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Hospital San Pedro
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of congenital disorder of glycosylation (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of muscular diseases (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of hyperlaxity (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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SPAIN

Galicia
A CORUÑA

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Health In Code. A Coruña
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of intellectual disability (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of Ehlers-Danlos syndrome (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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AUSTRIA

WIEN
WIEN

Diagnosis of muscular dystrophy, Duchenne and Becker type (DMD gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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ITALY

LOMBARDIA
MONZA

Diagnosis of Duchenne muscular dystrophy (DMD gene)
Synlab ITALIA srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of cardiopathies (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of congenital deafness (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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ITALY

EMILIA ROMAGNA
FERRARA

Diagnosis of rare cardiomyopathies [panel of genes]
A.O.U. Sant'Anna - Polo Chimico-Bio-Medico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Galicia
A CORUÑA

Diagnosis of limb-girdle muscular dystrophy (panel)
Health In Code. A Coruña
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

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ITALY

VENETO
PADOVA

Diagnosis of rare cardiac diseases [panel of genes]
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

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SPAIN

Galicia
A CORUÑA

Diagnosis of neuromuscular diseases (panel - 264 genes)
Health In Code. A Coruña
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

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SPAIN

Galicia
A CORUÑA

Diagnosis of structural muscle diseases of childhood and adulthood (panel - 56 genes)
Health In Code. A Coruña
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

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SPAIN

Madrid
TRES CANTOS

Diagnosis of Duchenne muscular dystrophy (DMD gene)
Centro de estudios genéticos ATG Medical
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

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SPAIN

Madrid
TRES CANTOS

Diagnosis of muscular dystrophy (panel)
Centro de estudios genéticos ATG Medical
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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ITALY

MOLISE
POZZILLI

Diagnosis of Duchenne muscular dystrophy (DMD gene)
Istituto Neurologico Mediterraneo - IRCCS Neuromed
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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ITALY

MOLISE
POZZILLI

Diagnosis of Becker muscular dystrophy (DMD gene)
Istituto Neurologico Mediterraneo - IRCCS Neuromed
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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SPAIN

Baleares
PALMA DE MALLORCA

Diagnosis of Duchenne muscular dystrophy (DMD gene)
Hospital Universitari Son Espases
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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SPAIN

Baleares
PALMA DE MALLORCA

Diagnosis of Becker muscular dystrophy (DMD gene)
Hospital Universitari Son Espases
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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SPAIN

Galicia
SANTIAGO DE COMPOSTELA

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Complejo Hospitalario Universitario de Santiago
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Array based techniques

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ITALY

EMILIA ROMAGNA
FERRARA

Diagnosis of neuromuscular diseases [panel of genes]
A.O.U. Sant'Anna - Polo Chimico-Bio-Medico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of limb-girdle muscular dystrophy (panel)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of myopathy, muscular distrophy and myotonia (panel)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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FRANCE

OCCITANIE
MONTPELLIER

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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ITALY

UMBRIA
PERUGIA

Molecular diagnosis of dystrophynopathies (DMD gene)
Università degli Studi di Perugia - Ospedale S. Maria della Misericordia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LAZIO
ROMA

Molecular diagnosis of Duchenne muscular dystrophy (DMD gene)
Centro Medico Artemisia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
AOU Università degli Studi della Campania "Luigi Vanvitelli" - Centro storico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Diagnosis of muscular dystrophy, Duchenne and Becker type (DMD gene)
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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ITALY

LOMBARDIA
PAVIA

Molecular diagnosis of muscular dystrophy
Fondazione IRCCS Policlinico San Matteo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

CALABRIA
MANGONE

Molecular diagnosis of muscular dystrophy, Duchenne and Becker type (DMD gene)
CNR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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PORTUGAL

NORTE
PORTO

Molecular diagnosis of muscular dystrophy Duchenne and Becker type (DMD gene)
CGMJM - CHUSA, EPE - Centro de Genética Médica Jacinto Magalhães
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LAZIO
ROMA

Molecular diagnosis of Duchenne and Becker type muscular dystrophy (DMD gene)
A.O. S. Andrea
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

SARDEGNA
CAGLIARI

Molecular diagnosis of Duchenne and Becker muscular dystrophy (dystrophin gene)
Ospedale Regionale per le Microcitemie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LOMBARDIA
MILANO

Molecular and immunological diagnosis of muscular dystrophy, Duchenne and Becker type (DMD gene)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Immunology

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ITALY

SICILIA
PALERMO

Molecular diagnosis of muscular dystrophy, Duchenne and Becker type (DMD gene)
Azienda Ospedaliera Ospedali Riuniti "Villa Sofia-Cervello" - Presidio Cervello
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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FINLAND

Finland
TAMPERE

Immunohistochemical and Western blot analysis of dystrophin
TAYS - Tampere University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry, Western Blot

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AUSTRIA

WIEN
WIEN

Diagnosis of Duchenne and Becker muscular dystrophy by western blotting for Dystrophin
Universitätsklinikum - AKH Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Western Blot

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ITALY

VENETO
VERONA

Molecular diagnosis of muscular dystrophy, Duchenne and Becker type (DMD gene)
Centro Airett Ricerca e Innovazione - CARI
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

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ITALY

VENETO
VERONA

Immunohistochemical diagnosis of muscular dystrophy limb-girdle, type 2A, 2B, 2C, 2D, 2E, 2F and 2G
Centro Airett Ricerca e Innovazione - CARI
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of muscular dystrophy Duchenne/Becker (DMD gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

PUGLIA
LECCE

Molecular diagnosis of muscular dystrophy, Duchenne and Becker types
Presidio Ospedaliero "Vito Fazzi" - ASL LE
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LAZIO
ROMA

Molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Istituto di Diagnostica Clinica Proda
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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FRANCE

ILE-DE-FRANCE
CRÉTEIL

Diagnosis of Duchenne and Becker muscular dystrophy on muscle biopsy
Hôpitaux Universitaires Henri Mondor
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

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CZECH REPUBLIC

South Moravia
BRNO

Molecular prenatal and postnatal diagnosis of muscular dystrophy Duchenne and Becker type (DMD gene)
University hospital Brno
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics

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BULGARIA

 South-West region
SOFIA

Molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
University hospital of Obstetrics and Gynecology
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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CZECH REPUBLIC

South Moravia
BRNO

Molecular diagnosis of muscular dystrophy Duchenne and Becker type (DMD gene)
University hospital Brno
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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CZECH REPUBLIC

Capital City Prague
PRAHA

Prenatal and postnatal molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Vseobecna fakultni nemocnice a 1. lekarska fakulta UK
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics

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CZECH REPUBLIC

Capital City Prague
PRAHA

Prenatal and postnatal molecular cytogenetic diagnosis of Duchenne and Becker muscular dystrophy (MLPA and haplotype analysis at Xp21.2/DMD gene)
University Hospital Motol
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

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TURKEY

TURKEY
ANKARA

Molecular diagnosis of muscular dystrophy Duchenne and Becker type (DMD gene)
Hacettepe University Faculty of Medicine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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TURKEY

TURKEY
ISTANBUL

Molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Acibadem University
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SLOVENIA

SLOVENIA
LJUBLJANA

Molecular diagnosis of Duchenne and Becker muscular dystrophies (DMD gene)
Univerzitetni klinicni center Ljubljana
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD gene determined by MLPA)
Università degli Studi di Padova- Polo A.Vallisneri
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

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ROMANIA

BUCURESTI
BUCURESTI

Molecular diagnosis of Duchenne and Becker muscular dystrophy : search for microdeletions
GeneticLab
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

ABRUZZO
CHIETI

Molecular diagnosis of muscular dystrophy, Duchenne and Becker type (DMD gene)
Università degli Studi "G. D'Annunzio" - CESI-Met
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

CALABRIA
REGGIO CALABRIA

Molecular diagnosis of muscular dystrophy, Duchenne and Becker types (DMD gene)
Azienda Ospedaliera BMM
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of muscular dystrophy, Duchenne and Becker types (DMD gene)
AOU Università degli Studi della Campania "Luigi Vanvitelli"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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BULGARIA

 South-West region
SOFIA

Molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
GENICA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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NORWAY

Østlandet
OSLO

Molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Oslo University Hospital, Ullevaal
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

VENETO
VERONA

Immunohistochemical diagnosis of muscular dystrophy, Duchenne and Becker types
Centro Airett Ricerca e Innovazione - CARI
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

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TURKEY

TURKEY
SÝVAS

Molecular diagnosis of Duchenne and Becker dystrophies
Cumhuriyet Üniversitesi Týp Fakültesi
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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CROATIA

CROATIA
ZAGREB

Molecular diagnosis of Duchenne and Becker muscular dystrophy
Zagreb Clinical Hospital Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SERBIA

Serbia
BELGRADE

Prenatal and postnatal molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD gene: deletions of 24 exons)
Mother and Child Health Institute of Serbia "Dr Vukan Cupic"
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

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ISRAEL

ISRAEL
JERUSALEM

Molecular diagnosis of Duchenne Muscular Dystrophy (DMD, Linkage analysis, PGD)
Shaare Zedek Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Sachsen-Anhalt
MAGDEBURG

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Universitätsklinikum Magdeburg A.ö.R
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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POLAND

Warszawa
WARSAW

Immunohistochemical diagnosis of Duchenne and Becker muscular dystrophy
Mossakowski Medical Research Centre - Polish Academy of Sciances
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

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ROMANIA

BUCURESTI
BUCURESTI

Prenatal and postnatal molecular diagnosis of Duchenne and Becker muscular dystrophies (DMD gene: deletion/duplication analysis by MLPA; mutation screening and full sequencing of the coding region)
National institute of legal medicine
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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CZECH REPUBLIC

Plzen
PLZEN - BORY

Molecular diagnosis of Duchenne et Becker muscular dystrophy (DMD gene)
Pilsen University Hospital, Fakultni nemocnice Plzen - areal Bory
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Nordrhein-Westfalen
BONN

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
MVZ Institut für Klinische Genetik und Tumorgenetik Bonn GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Nordrhein-Westfalen
AACHEN

Reference Centre for neuromuscular diseases: neuropathological, molecular analysis and electronic microscopy of muscle, nerv and skin biopsies
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics, Immunology, Pathology
Objective(s) : Analyte / Enzyme assay

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GERMANY

Nordrhein-Westfalen
BONN

Histological, histochemical, biochemical and molecular genetic diagnostics of neuromuscular diseases
Universitätsklinikum Bonn (AöR)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics, Pathology
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

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PORTUGAL

NORTE
PORTO

Diagnosis of Becker/Duchenne muscular dystrophy (DMD gene)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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LITHUANIA

DZUKIJA
VILNIUS

Molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD gene: MLPA)
Vilnius University Hospital Santariskiu Klinikos
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

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CROATIA

CROATIA
ZAGREB

Molecular diagnosis of Duchenne and Becker Muscular Dystrophy (DMD gene)
Children's University Hospital Zagreb
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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CANADA

Alberta
CALGARY

Molecular Diagnosis of Duchenne/Becker Muscular Dystrophy (by DMD MLPA)
Alberta Children's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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ITALY

LAZIO
ROMA

Postnatal molecular diagnosis of dystrophinopathies (DMD gene)
IRCCS Fondazione Santa Lucia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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AUSTRIA

WIEN
WIEN

Analysis of bone material properties in transiliac crest biopsy samples in patients with rare bone diseases: Bone histomorphometry, confocal laser scanning microscopy, quantitative backscattered electron imaging (qBEI), energy dispersive Xray analysis (EDX), Fourier transformed Infrared spectroscopy or Raman microspectroscopy of organic matrix properties, scanning acoustic microscopy
Hanusch Krankenhaus
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

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HUNGARY

Közép-Magyarország
BUDAPEST

Molecular diagnosis of DMD and BMD (dystrophin)
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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